In this video I have briefly explained Popmpe's disease (type glycogen storage disorder) with the help of a question. I have explained the answer to the question and also briefly given the diseases names for other choices. In Pompe's disease specially infantile form patients will have cardiomyopathy, cardiac failure, hypotonia, floppy appearance of the baby, respiratory muscle weakness, respiratory failure, death by cardiac failure, accumulation of glycogen in lysosomes, PAS positive material being accumulated and all this is due to acid maltase deficiency.
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Key words:
Pompe's disease
Pompe disease
type 2 GSD
glycogen storage disease
cardiac failure
cardiomyopathy
respiratory failure
floppy baby
hypotonia
muscle weakness
lysosomes
acid maltase
glucosidase
glycogen
Mungli
USMLE
step1
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